PMID- 11566346 OWN - NLM STAT- MEDLINE DCOM- 20011004 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 129 IP - 2 DP - 2001 Sep TI - Localization of the chromosome 22 breakpoints in two cases of acute megakaryoblastic leukemia with t(1;22)(p13;q13). PG - 150-4 AB - Acute megakaryoblastic leukemia with t(1;22)(p13;q13) is a rare malignancy occurring in infants and young children. The genes involved in t(1;22)(p13;q13) are unknown. In this study, dual-color fluorescence in situ hybridization (FISH) experiments with 15 probes were performed on the metaphase cells obtained from one patient to systematically narrow the region of the breakpoint on chromosome 22 and localize it to RP5-1042K10. A 22.3-kb FISH probe derived from RP5-1042K10 was used to further refine the locus of the breakpoint in this case. Southern blot analysis covering of genomic DNA from a second patient detected DNA rearrangement at a site close to the breakpoint observed with the 22.3-kb probe in the first case. A partially characterized gene, KIAA 1438, is in the vicinity of the breakpoints determined by FISH and Southern blot experiments, suggesting that this gene plays a role in this malignancy. FAU - Dickstein, J I AU - Dickstein JI AD - Department of Pathology, MC008, University of Chicago, 5841 S. Maryland Avenue, Chicago, IL 60637, USA. jdickste@mcis.bsd.uchicago.edu FAU - Davis, E M AU - Davis EM FAU - Roulston, D AU - Roulston D LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 SB - IM MH - Blotting, Southern MH - Child, Preschool MH - Chromosomes, Human, Pair 1/*genetics MH - Chromosomes, Human, Pair 22/*genetics MH - Fatal Outcome MH - Female MH - Genes, Neoplasm MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Leukemia, Megakaryoblastic, Acute/diagnosis/*genetics MH - Male MH - Metaphase MH - Translocation, Genetic/*genetics EDAT- 2001/09/22 10:00 MHDA- 2001/10/05 10:01 CRDT- 2001/09/22 10:00 PHST- 2001/09/22 10:00 [pubmed] PHST- 2001/10/05 10:01 [medline] PHST- 2001/09/22 10:00 [entrez] AID - S0165-4608(01)00508-8 [pii] AID - 10.1016/s0165-4608(01)00508-8 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2001 Sep;129(2):150-4. doi: 10.1016/s0165-4608(01)00508-8.